7-100572973-G-T
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PM2PP3
The NM_001348680.2(SAP25):c.398C>A(p.Thr133Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T133M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001348680.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SAP25 | NM_001348680.2 | c.398C>A | p.Thr133Lys | missense_variant | Exon 4 of 6 | ENST00000622764.3 | NP_001335609.1 | |
SAP25 | NM_001168682.3 | c.377C>A | p.Thr126Lys | missense_variant | Exon 4 of 6 | NP_001162153.2 | ||
SAP25 | NM_001348677.2 | c.104C>A | p.Thr35Lys | missense_variant | Exon 3 of 5 | NP_001335606.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SAP25 | ENST00000622764.3 | c.398C>A | p.Thr133Lys | missense_variant | Exon 4 of 6 | 5 | NM_001348680.2 | ENSP00000481773.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at